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PSEUDO-TURNER SYNDROME [1 record]
Record 1 - internal organization data 2024-09-12
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Noonan syndrome
1, record 1, English, Noonan%20syndrome
correct
Record 1, Abbreviations, English
- NS 2, record 1, English, NS
correct
Record 1, Synonyms, English
- Noonan's syndrome 3, record 1, English, Noonan%27s%20syndrome
correct
- NS 3, record 1, English, NS
correct
- NS 3, record 1, English, NS
- pseudo-Turner syndrome 4, record 1, English, pseudo%2DTurner%20syndrome
obsolete
- male Turner syndrome 2, record 1, English, male%20Turner%20syndrome
avoid, see observation, obsolete
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner. At least 8 gene mutations can cause this syndrome, and patient presentation can range from mild to severe. 5, record 1, English, - Noonan%20syndrome
Record number: 1, Textual support number: 1 OBS
male Turner syndrome: An early term for NS, "male Turner syndrome," incorrectly implied that the condition would not be found in females. 2, record 1, English, - Noonan%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Noonan
1, record 1, French, syndrome%20de%20Noonan
correct, masculine noun
Record 1, Abbreviations, French
- SN 2, record 1, French, SN
correct, masculine noun
Record 1, Synonyms, French
- pseudo-Turner 3, record 1, French, pseudo%2DTurner
masculine noun, obsolete
- syndrome de Turner masculin 4, record 1, French, syndrome%20de%20Turner%20masculin
avoid, see observation, masculine noun, obsolete
- syndrome de Turner mâle 5, record 1, French, syndrome%20de%20Turner%20m%C3%A2le
avoid, see observation, masculine noun, obsolete
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Noonan est un syndrome d'origine génétique qui se manifeste par un aspect particulier des traits du visage, des malformations du cœur et une petite taille. [...] Le syndrome de Noonan touche indifféremment les garçons et les filles. Cette maladie n'est pas spécifique d'une population ou d'une région particulières. [...] Beaucoup de manifestations de la maladie sont présentes dès la naissance, mais elles sont discrètes et peu spécifiques. C'est pourquoi le diagnostic de syndrome de Noonan est souvent tardif (entre 5 et 10 ans) lorsqu'il n'y a pas de rétrécissement de la valve pulmonaire ou de cardiomyopathie. Les particularités du visage s'estompent à l'âge adulte. 6, record 1, French, - syndrome%20de%20Noonan
Record number: 1, Textual support number: 1 OBS
syndrome de Turner masculin; syndrome de Turner mâle : Ces désignations vieillies laissent entendre que les personnes de sexe féminin ne peuvent pas être atteintes de ce syndrome, ce qui est erroné. 7, record 1, French, - syndrome%20de%20Noonan
Record 1, Spanish
Record 1, Textual support, Spanish
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